Canonical Allele Identifier: CA2612256325

Gene: TPP1

Linked Data

• gnomAD v4: 11-6614496-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614496A>C , CM000673.2:g.6614496A>C	GRCh38
NC_000011.9:g.6635727A>C , CM000673.1:g.6635727A>C	GRCh37
NC_000011.8:g.6592303A>C	NCBI36
NG_008653.1:g.9966T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.*50T>G	ENSP00000507321.1:n.*50T>G
ENST00000299427.12:c.*50T>G MANE Select	ENSP00000299427.6:n.*50T>G
ENST00000524611.2:n.781T>G
ENST00000533371.6:c.*50T>G	ENSP00000437066.1:n.*50T>G
ENST00000642892.1:c.*50T>G	ENSP00000494165.1:n.*50T>G
ENST00000643342.1:c.815T>G
ENST00000643439.1:c.*1482T>G	ENSP00000495849.1:n.*1482T>G
ENST00000643479.1:n.1928T>G
ENST00000643516.1:c.1251T>G
ENST00000644218.1:c.*50T>G	ENSP00000493574.1:n.*50T>G
ENST00000644683.1:c.*1195T>G	ENSP00000494085.1:n.*1195T>G
ENST00000644810.1:c.*50T>G	ENSP00000495895.1:n.*50T>G
ENST00000644831.1:n.1918T>G
ENST00000644933.1:c.*608T>G	ENSP00000496133.1:n.*608T>G
ENST00000645285.1:c.*608T>G	ENSP00000495058.1:n.*608T>G
ENST00000645331.1:n.2947T>G
ENST00000645620.1:c.*50T>G	ENSP00000493657.1:n.*50T>G
ENST00000646691.1:n.1629T>G
ENST00000646777.1:n.2075T>G
ENST00000647016.1:n.2222T>G
ENST00000647152.1:c.*50T>G	ENSP00000495893.1:n.*50T>G
ENST00000647209.1:c.*1611T>G	ENSP00000495558.1:n.*1611T>G
ENST00000647346.1:n.2762T>G
ENST00000299427.10:c.*50T>G	ENSP00000299427.6:n.*50T>G
ENST00000533371.5:c.*50T>G	ENSP00000437066.1:n.*50T>G
ENST00000611494.4:c.*70T>G	ENSP00000484546.1:n.*70T>G
NM_000391.3:c.*50T>G	NP_000382.3:n.*50T>G
NM_000391.4:c.*50T>G MANE Select	NP_000382.3:n.*50T>G